Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.
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| Title: | Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities. |
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| Authors: | Hamada N; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., AlAbdi L; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia., Uehara T; Central Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.; Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan., Sasikarn L; Section of Electron Microscopy, Supportive Center for Brain Research, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan.; Department of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan., Nishijo T; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., Suliman-Lavie R; Department of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel., Hashem MO; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia., Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alhefdhi S; Medical Genetics Division, Department of Pediatrics, King Khalid University Hospital, King Saud University, Riyadh, 12372, Saudi Arabia., Tabarki B; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alghamdi M; Medical Genetics Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Iwamoto I; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., Takenouchi T; Department of Pediatrics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan., Kosaki K; Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan., Shifman S; Department of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel., Mizuno S; Central Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., Ohno N; Department of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan.; Division of Ultrastructural Research, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan., Alkuraya FS; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.; Lifera Omics, Riyadh, Saudi Arabia., Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan. knagata@inst-hsc.jp.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan. knagata@inst-hsc.jp. |
| Source: | EMBO molecular medicine [EMBO Mol Med] 2026 Jun; Vol. 18 (6), pp. 2180-2212. Date of Electronic Publication: 2026 May 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1757-4684 |
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| DOI: | 10.1038/s44321-026-00427-3 |
